Results 91 to 100 of about 308,275 (267)

High Proportion of PNH Type II Neutrophils Is Associated With Thrombosis in Patients Displaying a PNH Clone ≥ 1%

American Journal of Hematology, EarlyView.
ABSTRACT The clinical significance of PNH Type II white blood cells (WBCs) remains unclear. We assessed the relative percentage (rel%) of Type II neutrophils in 355 patients with a PNH clone ≥ 1% on neutrophils enrolled by 33 flow cytometry laboratories in the 5‐year French nation‐wide multicenter prospective observational study.
Orianne Wagner‐Ballon, Anne‐Catherine Lhoumeau, Anna Raimbault, Camille Debord, Jean‐Philippe Vial, Valérie Soenen, Mélanie Pannetier, Edouard Bonneville, Elsa Bera, Caroline Bret, Nicolas Chapuis, Véronique Latger‐Cannard, Caroline Mayeur‐Rousse, Véronique Harrivel, François Vergez, Marie Loosveld, Juliette Vo Xuan, Stéphanie Mathis, Gérard Socié, Flore Sicre de Fontbrune, Régis Peffault de Latour, Bernard Drenou, Agathe Debliquis, Magali Le Garff‐Tavernier, on behalf of the French PNH working group CytHem‐HPN, Thomas Boyer, Mikaël Roussel, Marie Guillon, Sabrina Bouyer, Isabelle Kittler, Franck Geneviève, Julien Guy, Sophie Brun, Claude Capron, Sébastien Lachot, Francine Garnache‐Ottou, Richard Veyrat‐Masson, Corine Brunet, Caren Brumpt, Ludovic Lhermitte. Finally, Louis Terriou, Nicolas Blin   +41 more
wiley   +1 more source

Complications in adolescent pregnancy: systematic review of the literature

Einstein (São Paulo)
Sexual activity during adolescence can lead to unwanted pregnancy, which in turn can result in serious maternal and fetal complications. The present study aimed to evaluate the complications related to adolescent pregnancy, through a systematic review ...
Walter Fernandes de Azevedo, Michele Baffi Diniz, Eduardo Sérgio Valério Borges da Fonseca, Lícia Maria Ricarte de Azevedo, Carla Braz Evangelista   +4 more
doaj   +1 more source

Recombinant Human Thrombopoietin Reduces the Need for Platelet Transfusion in Patients With Chronic Liver Disease and Thrombocytopenia

American Journal of Hematology, EarlyView.
ABSTRACT Chronic liver disease (CLD)‐related thrombocytopenia can limit the feasibility of invasive procedures. Recombinant human thrombopoietin (rhTPO) has demonstrated a favorable safety profile without hepatotoxicity. We evaluated the efficacy and safety of rhTPO in patients with CLD‐related thrombocytopenia who were undergoing elective invasive ...
Yifan Han, Ning Lin, Jinghang Xu, Sikui Wang, Jinglan Jin, Jia Shang, Yongning Xin, Youwen Tan, Dazhi Zhang, Jinlin Hou, Ping An, Wen Xie, Yujuan Guan, Qingfang Xiong, Hong Wu, Huiguo Ding, Yu Chen, Rongkuan Li, Zhili Wen, Mingqin Lu, Jinhui Yang, Zhongyin Zhou, Yongjian Zhou, Zujiang Yu, Kecan Lin, Wei Wang, Yan Huang, Yuemin Nan, Xinhua Luo, Rongshu Shi, Yi Kang, Tao Han, Shiyan Chen, Kai Wang, Yunfeng Shan, Jiaping Li, Pingguo Liu, Zheng Lu, Jun Chen, Zhen Liu, Liaoyun Zhang, Li Yang, Jifang Sheng, Zhan Zeng, Yanyan Yu, Xiaoyuan Xu   +45 more
wiley   +1 more source

A Case Series on Pregnant Patients with Ovarian Cysts and Management of Potential Complications

Indonesian Journal of Obstetrics and Gynecology
(English) Objective: To report a series of ovarian cyst cases in pregnancy that we diagnosed in our obstetrics and gynecology department; and to provide literary perspective in management of potential complications.
Gezta Nasafir Hermawan, Bismarck Joel Laihad   +1 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source